Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.K993E

c.2977A>G

Surrounding Variants

1 paper

NM_007294.4

p.K993fs

c.2977_2978fs

1 paper

NM_007294.4

p.T992fs

c.2974_2975fs

1 paper

NM_007294.4

p.T992delFs

c.2975delG

2 papers

NM_007294.4

p.K991_T992delFs

c.2971_2975del5

1 paper

NM_007294.4

p.K993R

c.2978A>G

1 paper

NM_007294.4

p.T992I

c.2975C>T

2 papers

NM_007294.4

p.K993K

c.2979A>G

1 paper

NM_007294.4

p.K993fs

c.2977_2978fs

2 papers

NM_007294.4

p.C994_K995insA

c.2980_2984ins3

1 paper

NM_007294.4

p.C994_K995insAA

c.2980_2984ins6

1 paper

NM_007294.4

p.C994G

c.2980T>G

6 papers

NM_007294.4

p.C994R

c.2980T>C